R18S (p.Arg18Ser) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R18S (p.Arg18Ser) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- gnomAD 2-203867996-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- MetaLR 0.05
- MetaSVM -1.01
- CADD 8.43
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available